Canonical Allele Identifier: CA1310530330

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569316C= , CM000664.2:g.178569316C= GRCh38
NC_000002.11:g.179434043C= , CM000664.1:g.179434043C= GRCh37
NC_000002.10:g.179142289C= NCBI36
NG_011618.3:g.266487G= , LRG_391:g.266487G=
NG_051363.1:g.51490C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69112G= (TTN) ENSP00000343764.6:p.Val23038=
ENST00000342175.11:c.50197G= (TTN) ENSP00000340554.6:p.Val16733=
ENST00000359218.10:c.49996G= (TTN) ENSP00000352154.5:p.Val16666=
ENST00000342175.10:c.50197G= (TTN) ENSP00000340554.6:p.Val16733=
ENST00000342992.10:c.69112G= (TTN) ENSP00000343764.6:p.Val23038=
ENST00000359218.9:c.49996G= (TTN) ENSP00000352154.5:p.Val16666=
ENST00000460472.6:c.49621G= (TTN) ENSP00000434586.1:p.Val16541=
ENST00000589042.5:c.76816G= (TTN) MANE Select ENSP00000467141.1:p.Val25606=
ENST00000591111.5:c.71893G= (TTN) ENSP00000465570.1:p.Val23965=
ENST00000615779.4:c.71893G= (TTN) ENSP00000483597.1:p.Val23965=
NM_001256850.1:c.71893G= (TTN) NP_001243779.1:p.Val23965=
NM_001267550.2:c.76816G= (TTN) MANE Select NP_001254479.2:p.Val25606=
NM_003319.4:c.49621G= (TTN) NP_003310.4:p.Val16541=
NM_133378.4:c.69112G= (TTN) NP_596869.4:p.Val23038=
NM_133432.3:c.49996G= (TTN) NP_597676.3:p.Val16666=
NM_133437.4:c.50197G= (TTN) NP_597681.4:p.Val16733=
NR_038271.1:n.447-1984C= (TTN-AS1)
NR_038272.1:n.2044-13256C= (TTN-AS1)
XM_011511729.1:c.75913G= (TTN) XP_011510031.1:p.Val25305=
XM_011511730.1:c.49807G= (TTN) XP_011510032.1:p.Val16603=
XM_011511731.1:c.49666G= (TTN) XP_011510033.1:p.Val16556=
XM_017004819.1:c.75709G= (TTN) XP_016860308.1:p.Val25237=
XM_017004820.1:c.71107G= (TTN) XP_016860309.1:p.Val23703=
XM_017004821.1:c.71104G= (TTN) XP_016860310.1:p.Val23702=
XM_017004822.1:c.68146G= (TTN) XP_016860311.1:p.Val22716=
XM_017004823.1:c.49762G= (TTN) XP_016860312.1:p.Val16588=
XM_024453094.1:c.71257G= (TTN) XP_024308862.1:p.Val23753=
XM_024453095.1:c.71254G= (TTN) XP_024308863.1:p.Val23752=
XM_024453096.1:c.70687G= (TTN) XP_024308864.1:p.Val23563=
XM_024453097.1:c.68029G= (TTN) XP_024308865.1:p.Val22677=
XM_024453098.1:c.67948G= (TTN) XP_024308866.1:p.Val22650=
XM_024453099.1:c.49711G= (TTN) XP_024308867.1:p.Val16571=
XM_024453100.1:c.39565G= (TTN) XP_024308868.1:p.Val13189=